家族性腺瘤性息肉病(FAP)为APC基因或Mut YH双等位突变所致的常染色体显性或隐性遗传病,是第二常见的遗传性结直肠癌综合征。临床经验表明,虽然APC基因突变携带者其终生癌变率几乎是100%,但及时发现、及时治疗完全可以预防癌变恶化~([1])。简要整理目前经证实的FAP的临床特点及有效预防手段可为临床FAP早发现、早诊断、早防癌提供借鉴和参考。 Familial adenomatous polyposis coli (FAP) is an autosomal dominant or recessive genetic disease caused by the APC gene or Mut YH biallelic mutation and is the second most common hereditary colorectal cancer syndrome. Clinical experience shows that although the lifetime mutation rate of APC gene mutation carriers is almost 100%, timely detection and timely treatment can completely prevent the cancerous deterioration (1). To summarize the clinical features and effective preventive measures of FAP currently confirmed may provide reference and reference for early detection, early diagnosis and early prevention of cancer in clinical FAP.